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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=885",
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"results": [
{
"created": "2022-04-13T17:39:05.396076+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX9 were changed from to Tooth agenesis, selective, 3 - MIM#604625",
"entity_name": "PAX9",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:38:35.740508+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX9 were set to ",
"entity_name": "PAX9",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:36:56.317984+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX9",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:35:16.264650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD209 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CD209",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:32:50.321911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:32:07.007854+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:32:06.981142+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:32:03.575006+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal,MIM#\t608013",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:31:20.787129+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBA were set to ",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:30:49.628849+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:26:44.624545+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNS as ready",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:26:44.609648+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galns has been classified as Green List (High Evidence).",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:26:40.958025+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM#\t253000",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:25:56.542501+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALNS were set to ",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:24:54.617585+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:24:03.405064+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC2 as ready",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:24:03.392455+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Green List (High Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:23:53.458678+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM:153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:20:39.951927+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXC2 were set to ",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:20:06.892774+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:18:27.913045+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SET as ready",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:18:27.899710+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: set has been classified as Green List (High Evidence).",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:18:22.504608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SET were changed from to Intellectual developmental disorder, autosomal dominant 58, MIM#618106; intellectual disability, autosomal dominant 58, MONDO:0020847",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:17:47.697548+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SET were set to ",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:17:12.509760+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:16:26.485383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 29907757, 25356899; Phenotypes: Intellectual developmental disorder, autosomal dominant 58, MIM#618106, intellectual disability, autosomal dominant 58, MONDO:0020847; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:16:02.641083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SET as ready",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:16:02.630828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: set has been classified as Green List (High Evidence).",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:15:41.472217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SET were changed from to Intellectual developmental disorder, autosomal dominant 58, MIM#618106; intellectual disability, autosomal dominant 58, MONDO:0020847",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:09:33.573209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SET were set to ",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:08:55.785105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:08:10.549521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPING1 as ready",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:08:10.537094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serping1 has been classified as Green List (High Evidence).",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:08:01.195250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:07:37.684720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPING1 were set to ",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2022-04-13T17:07:07.652069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPING1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2022-04-13T13:51:07.808296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12860",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM149B1 were changed from Joubert; Ciliopathy to Joubert syndrome 36 MONDO:0032902; Ciliopathy",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2022-04-13T11:57:08.701445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "edited their review of gene: SGCD: Added comment: Variants identified in multiple cases of cardiomyopathy, however most are too common in the general population to explain the disease. \r\nFirst described in the literature with potential association to cardiomyopathy in 2000 (Tsubata et al 10974018).\r\nCase-control study by Mazzarotto et al 2020, did not identify enrichment of SGCD in DCM cohort.\r\n\r\nAnimal models demonstrate mild cardiomyopathy phenotype.\r\n\r\nCurated as 'limited' gene-disease association by ClinGen; Changed rating: RED; Changed publications: 10974018, 31983221, 23695275; Changed phenotypes: Cardiomyopathy, dilated, 1L, MIM#606685, dilated cardiomyopathy MONDO:0005021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-04-13T11:03:45.482437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 30733730, 10838250; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM#601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:54:53.358412+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.61",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 30919934, 25862795; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:49:46.530523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:45:18.464849+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.61",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:43:58.484836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:34:26.988234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:00:10.603166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFRP4",
"entity_type": "gene"
},
{
"created": "2022-04-13T09:59:15.370810+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.161",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFRP4",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:19:37.937032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPIND1 as ready",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:19:37.926463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpind1 has been classified as Green List (High Evidence).",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:19:27.146827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPIND1 were changed from to heparin cofactor 2 deficiency, MONDO:0012876; Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:19:04.655910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPIND1 were set to ",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:18:41.896774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPIND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:18:03.264306+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOVA2 as ready",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:18:03.241652+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:17:59.142312+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOVA2 were changed from intellectual disability (ID), motor and speech delay; autistic features; hypotonia; feeding difficulties; spasticity; ataxia; epilepsy to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:17:19.067565+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOVA2 as Amber List (moderate evidence)",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:17:19.058708+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:16:48.111074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOVA2 were changed from Intellectual disability; autism; hypotonia; spasticity; ataxia to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:16:29.198524+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:14:58.371160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOVA2: Changed phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:13:05.118583+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO28 as ready",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:13:05.100780+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:13:01.018013+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO28 were changed from Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100 , MIM#619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:12:50.000870+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO28 as Green List (high evidence)",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:12:49.981888+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-12T17:12:39.952579+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 100 , MIM#619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-12T07:42:04.622896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30030704, 29155103, 28822832, 17675473; Phenotypes: Immunodeficiency 64 (MIM#618534); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2022-04-11T18:26:37.488738+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A12 as ready",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2022-04-11T18:26:37.476486+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a12 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2022-04-11T18:26:31.015869+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2022-04-11T18:17:25.597472+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A12 were set to ",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2022-04-11T17:19:28.581652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: No OMIM gene disease association.\r\n\r\n1 individual from a consanguineous family reported with PDCD1 deficiency.\r\n\r\nPMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.; to: No OMIM gene disease association. \r\n\r\n1 individual from a consanguineous family reported with PDCD1 deficiency.\r\n\r\nPMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-04-11T17:18:48.931720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDCD1: Rating: RED; Mode of pathogenicity: None; Publications: 34183838; Phenotypes: ?PDCD1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:50:05.330129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PEPCK deficiency, mitochondrial - MIM#261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:44:48.609034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CD79A as ready",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:44:48.599363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cd79a has been classified as Green List (High Evidence).",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:44:42.702782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12855",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CD79A were changed from to Agammaglobulinemia 3 MIM#613501",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:44:34.582941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CD79A were set to ",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:44:28.181847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD79A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:44:11.521364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12853",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29335801, 31696364, 24481606, 10525050, 11920841; Phenotypes: Agammaglobulinemia 3 MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:36:59.287348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12853",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:58.423084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12853",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CD70 as ready",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:58.413938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12853",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cd70 has been classified as Green List (High Evidence).",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:49.530944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12853",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CD70 were changed from to Lymphoproliferative syndrome 3, MIM# 618261",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:44.668889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CD70 were set to ",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:40.238903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:27.559140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12851",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:33:22.866157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: None; Publications: 28011864, 28011863; Phenotypes: Lymphoproliferative syndrome 3, MIM# 618261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:32:29.899512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CD55 as ready",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:32:29.888114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cd55 has been classified as Green List (High Evidence).",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:32:23.850804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CD55 were changed from to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:32:14.081684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12850",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CD55 were set to ",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:32:04.776917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12850",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:31:44.446900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: 28657829, 28657861; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:30:44.885872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CD46 as ready",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:30:44.876558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cd46 has been classified as Green List (High Evidence).",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:30:44.004750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CD46 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:30:38.539765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CD46 were set to ",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:30:25.592347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:29:58.959657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12848",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301541, 26054645, 26826462; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-04-11T16:29:04.020794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12848",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657; Phenotypes: Pyruvate carboxylase deficiency - MIM#266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PC",
"entity_type": "gene"
}
]
}